HRNR c.3055G>C ;(p.G1019R)

Variant ID: 1-152191050-C-G

NM_001009931.2(HRNR):c.3055G>C;(p.G1019R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications
Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM
Publication Date: 2022-08

Variant appearance in text: HRNR: G1019R; rs150117899
PubMed Link: 35507738
Variant Present in the following documents:
  • HEP4-6-2132-s005.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: HRNR: G1019R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page